Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

Darryl Y Nishimura; Charles C Searby; Rivka Carmi; Khalil Elbedour; Lionel Van Maldergem; Anne B Fulton; Byron L Lam; Berkley R Powell; Ruth E Swiderski; Kevin E Bugge; Neena B Haider; Anne E Kwitek-Black; Lihua Ying; David M Duhl; Susan W Gorman; Elise Héon; Alessandro Iannaccone; Dominique Bonneau; Leslie G Biesecker; Samuel G Jacobson; Edwin M Stone; Val C Sheffield

doi:10.1093/hmg/10.8.865

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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

Journal article

Open access

Peer reviewed

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

Darryl Y Nishimura, Charles C Searby, Rivka Carmi, Khalil Elbedour, Lionel Van Maldergem, Anne B Fulton, Byron L Lam, Berkley R Powell, Ruth E Swiderski, Kevin E Bugge, …

Human molecular genetics, Vol.10(8), pp.865-874

04/01/2001

DOI: 10.1093/hmg/10.8.865

PMID: 11285252

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Abstract

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed for the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families.

Mutation

Amino Acid Sequence

Genetic Testing

Humans

Molecular Sequence Data

Rats

Male

Chromosome Mapping

Proteins - genetics

Animals

Pedigree

Chromosomes, Human, Pair 16

Cloning, Molecular

Conserved Sequence

Bardet-Biedl Syndrome - genetics

Female

Mice

Evolution, Molecular

Details

Title: Subtitle: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
Creators: Darryl Y Nishimura - Department of Pediatrics and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA
Charles C Searby
Rivka Carmi
Khalil Elbedour
Lionel Van Maldergem
Anne B Fulton
Byron L Lam
Berkley R Powell
Ruth E Swiderski
Kevin E Bugge
Neena B Haider
Anne E Kwitek-Black
Lihua Ying
David M Duhl
Susan W Gorman
Elise Héon
Alessandro Iannaccone
Dominique Bonneau
Leslie G Biesecker
Samuel G Jacobson
Edwin M Stone
Val C Sheffield
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.10(8), pp.865-874
DOI: 10.1093/hmg/10.8.865
PMID: 11285252
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: R01-EY-11298 / NEI NIH HHS
Language: English
Date published: 04/01/2001
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980042702771

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